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Glycogen storage disease IIIa(GSD IIIa)

MedGen UID:
369842
•Concept ID:
C1968739
•
Disease or Syndrome
Synonym: GSD IIIa
 
OMIM®: 232400

Recent clinical studies

Etiology

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Hennis PJ, Murphy E, Meijer RI, Lachmann RH, Ramachandran R, Bordoli C, Rayat G, Tomlinson DJ
Orphanet J Rare Dis 2022 Jan 31;17(1):28. doi: 10.1186/s13023-022-02184-1. PMID: 35101075Free PMC Article
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Paschall A, Khan AA, Enam SF, Boggs T, Hijazi G, Bowling M, Austin S, Case LE, Kishnani P
Mol Genet Metab 2021 Nov;134(3):223-234. Epub 2021 Oct 9 doi: 10.1016/j.ymgme.2021.10.002. PMID: 34649782Free PMC Article
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
Zhang Y, Xu M, Chen X, Yan A, Zhang G, Liu Z, Qiu W
BMC Med Genet 2018 Apr 4;19(1):54. doi: 10.1186/s12881-018-0560-6. PMID: 29614965Free PMC Article

Diagnosis

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
Zhang Y, Xu M, Chen X, Yan A, Zhang G, Liu Z, Qiu W
BMC Med Genet 2018 Apr 4;19(1):54. doi: 10.1186/s12881-018-0560-6. PMID: 29614965Free PMC Article
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Li XH, Gong QM, Ling Y, Huang C, Yu DM, Gu LL, Liao XW, Zhang DH, Hu XQ, Han Y, Kong XF, Zhang XX
Biochem Biophys Res Commun 2014 Dec 5;455(1-2):90-7. doi: 10.1016/j.bbrc.2014.10.096. PMID: 25451272
Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA.
Kondo Y, Usui H, Ishige-Wada M, Murase T, Owada M, Okubo M
Clin Chim Acta 2013 Sep 23;424:19-21. Epub 2013 May 13 doi: 10.1016/j.cca.2013.05.007. PMID: 23688858

Therapy

Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.
Kalkan Uçar S, Altınok YA, Mansuroglu Y, Canda E, Yazıcı H, Çelik MY, Erdem F, Yanbolu AY, Ülger Z, Çoker M
J Inherit Metab Dis 2024 Sep;47(5):1001-1017. Epub 2024 Apr 16 doi: 10.1002/jimd.12741. PMID: 38623712
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.
Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA
J Inherit Metab Dis 2009 Dec;32 Suppl 1(0 1):S103-6. Epub 2009 Mar 30 doi: 10.1007/s10545-009-1088-x. PMID: 19322675Free PMC Article

Prognosis

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Hennis PJ, Murphy E, Meijer RI, Lachmann RH, Ramachandran R, Bordoli C, Rayat G, Tomlinson DJ
Orphanet J Rare Dis 2022 Jan 31;17(1):28. doi: 10.1186/s13023-022-02184-1. PMID: 35101075Free PMC Article
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.
Halaby CA, Young SP, Austin S, Stefanescu E, Bali D, Clinton LK, Smith B, Pendyal S, Upadia J, Schooler GR, Mavis AM, Kishnani PS
Genet Med 2019 Dec;21(12):2686-2694. Epub 2019 Jul 2 doi: 10.1038/s41436-019-0561-7. PMID: 31263214
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT
Ann Intern Med 1992 Jun 1;116(11):896-900. doi: 10.7326/0003-4819-116-11-896. PMID: 1580445

Clinical prediction guides

Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.
Kalkan Uçar S, Altınok YA, Mansuroglu Y, Canda E, Yazıcı H, Çelik MY, Erdem F, Yanbolu AY, Ülger Z, Çoker M
J Inherit Metab Dis 2024 Sep;47(5):1001-1017. Epub 2024 Apr 16 doi: 10.1002/jimd.12741. PMID: 38623712
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Hennis PJ, Murphy E, Meijer RI, Lachmann RH, Ramachandran R, Bordoli C, Rayat G, Tomlinson DJ
Orphanet J Rare Dis 2022 Jan 31;17(1):28. doi: 10.1186/s13023-022-02184-1. PMID: 35101075Free PMC Article
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Li XH, Gong QM, Ling Y, Huang C, Yu DM, Gu LL, Liao XW, Zhang DH, Hu XQ, Han Y, Kong XF, Zhang XX
Biochem Biophys Res Commun 2014 Dec 5;455(1-2):90-7. doi: 10.1016/j.bbrc.2014.10.096. PMID: 25451272
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT
Ann Intern Med 1992 Jun 1;116(11):896-900. doi: 10.7326/0003-4819-116-11-896. PMID: 1580445

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